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Diagnostics overview
Evolving Terminology for Emerging Technologies
Comments? Questions? Revisions? 
Mary Chitty MSLS  mchitty@healthtech.com
Last revised January 14, 2020

SCOPE NOTE Diagnostics include biomarkers, cancer diagnostics/liquid biopsy/circulating cell free DNA/circulating tumor cells, companion diagnostics, pharmacogenomics for clinical trial patient stratification, prenatal diagnostics/
Related glossaries include : Biomarkers        Molecular Diagnostics    Molecular Medicine      Pharmacogenomics & Personalized Medicine   Regulatory    Sequencing      SNPs, CNVs  & other genetic variations 
Cancer diagnostics are also in Cancer   and   Cancer overview

Next Generation Diagnostics 2020 Aug 25-27, Washington DC coverage spans cell- and cell-free biopsies, commercialization, reimbursement, biomarkers and companion diagnostics for immunotherapy, point-of-care testing, infectious disease, microfluidics and precision medicine. .  https://www.nextgenerationdx.com/

Molecular Medicine TriConference Precision Health March 2-4, 2020 San Francisco CA https://www.triconference.com/Precision-Health key opinion leaders in immunotherapy, liquid biopsy, and cell and gene therapy will discuss the latest tools, clinical advances, and commercial applications of a broad range of new and diverse products for vast improvements in medicine and healthcare.

assay: A laboratory test to find and measure the amount of a specific substance. NCI Dictionary of Cancer Terms, National Cancer Institute https://www.cancer.gov/publications/dictionaries/cancer-terms?cdrid=44528 investigative (analytic) procedure in laboratory medicine, pharmacology, environmental biology and molecular biology for qualitatively assessing or quantitatively measuring the presence, amount, or functional activity of a target entity (the analyte). https://en.wikipedia.org/wiki/Assay

biomarker, or biological marker, generally refers to a measurable indicator of some biological state or condition. The term is also occasionally used to refer to a substance the presence of which indicates the existence of a living organism. https://en.wikipedia.org/wiki/Biomarker    

circulating tumor cells CTCs: Circulating Tumor Cells  and Liquid Biopsy March 2-4 2020 • San Francisco, CA | The way we think about cancer is about to change. What we used to treat as a random occurrence is becoming both predictable and preventable through an array of emerging circular biomarkers. Through the use of circulating tumor cells, cell-free circulating DNA, exosomes, exomers, oncosomes and other extracellular vesicles, we are now able to understand early stages of cancer and apply molecular profiling to clinical trial selection, patient treatment and minimal residual disease detection. The applications are expanding outside of cancer to include transplant medicine, cardiovascular disease, CNS, autoimmune and infectious disease. https://www.triconference.com/Circulating-Tumor-Cells

Circulating tumor cells (CTCs) are cells that have shed into the vasculature or lymphatics[1] from a primary tumor and are carried around the body in the circulation. CTCs thus constitute seeds for the subsequent growth of additional tumors (metastases) in vital distant organs, triggering a mechanism that is responsible for the vast majority of cancer-related deaths.[2]  https://en.wikipedia.org/wiki/Circulating_tumor_cell

Digital Health  MARCH 2-4, 2020,  San Francisco CA   Digital Health is promising to revolutionize healthcare delivery, optimize personalized and precision medicine, and offer new tools for drug and diagnostic development. The applications of biosensors, mobile devices and wearables, Internet of Things, mobile health platforms, artificial intelligence, and digital biomarkers are quickly expanding into all areas of patient monitoring and disease management, point-of-care diagnostics, and digital endpoints in clinical trials.   https://www.triconference.com/Digital-Health

DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms. DNA is a double helix formed by base pairs attached to a sugar-phosphate backbone. An important property of DNA is that it can replicate, or make copies of itself. Each new cell needs to have an exact copy of the DNA present in the old cell.  Genetics Home Reference, National Library of Medicine https://ghr.nlm.nih.gov/primer/basics/dna

immuno-oncology IO Summit: August 10-14 2020 Boston MA  As our understanding of tumor immunology has advanced, immuno-oncology has made unprecedented progress in improving the outcomes for cancer patients. Still, with the field in its infancy, the full curative potential of IO has yet to be realized  . https://www.immuno-oncologysummit.com/

in vitro diagnostics: Commercializing Novel IVDs , Harry Glorikian, Insight Pharma Reports  Executive Summary The process of developing a successful in vitro diagnostic (IVD) relies on the expertise of a diverse group of individuals, including the scientists who identify the biomarkers of significance, engineers and assay developers who translate those ideas into a tangible product, and the sales and marketing staff who get the product into the market. Global and regional trends have a tremendous effect on the IVD industry. Rising healthcare costs have led to a greater emphasis on evidence-based medicine and a focus on improved patient outcomes. An aging population along with the growing epidemic of chronic diseases and (re)emergence of infectious diseases are creating a demand for diagnostic devices for a variety of conditions. The growth of emerging economies and the push for decentralized healthcare are opening the IVD market to a wider audience. Healthcare delivery systems are changing, with growing numbers of integrated delivery networks and accountable care organizations, while smaller physician and hospital networks are being acquired by larger corporations and/or are aligning themselves with other small groups. https://www.insightpharmareports.com/commercializing-novel-ivds-a-comprehensive-manual-for-success

Laboratory Developed Tests LDTs: a type of in vitro diagnostic test that is designed, manufactured and used within a single laboratory. ... For example, some tests can detect many DNA variations from a single blood sample, which can be used to help diagnose a genetic disease.  FDA, LDTs https://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/LaboratoryDevelopedTests/default.htm

liquid biopsy This is an unprecedented time in biomolecular medicine. 1) Recent scientific findings have determined biofluids consist of circulating tumor cells (CTCs), cell-free nucleic acid (cfNA), or extracellular vesicles from multiple tissues within the body. 2) Rapid development of highly sensitive and accurate next-generation sequencing (NGS) technologies has allowed analysis of the role of these biomolecules, and has been rapidly adopted into molecular diagnostic laboratories. And 3) researchers are empowered to analyze the role of these biomolecules in health, disease and treatment response leading to targeted therapies. However, there still remains insecurity associated with biofluid-based DNA/RNA analytical methods, which must be solved before liquid biopsies can be implemented for broader routine applications.  June 15-17, 2020 Seattle WA https://www.liquidbiopsysummit.com/

 Molecular Diagnostics Europe  2020 May 19-21 Lisbon Portugal  https://www.dxinnovationsummit.com/  Now Diagnostics Innovation Summit   

Molecular Diagnostics for Infectious Disease March 2-4, 2020 San Francisco, CA  | Advancing Molecular Diagnostics to Improve Detection and Patient Outcome With NGS assays moving into clinical use and new technologies being developed for a host of infectious diseases, it is more important than ever to keep on top of the latest advances in the field. Cambridge Healthtech Institute’s 4th Annual Molecular Diagnostics for Infectious Disease symposium will discuss in detail the process of moving sequencing into clinical use, with an examination of reference vs. clinical labs, metagenomics vs. panel-based tests, investments in bioinformatics, and physician education. We will also examine rapid susceptibility testing in the light of the new breakpoints, how they are used, and the role genotypic vs. phenotypic testing. Special attention will also be paid to new technologies for host response and clinical applications of microbiome analysis. We will also have a discussion centered around the regulatory landscape for NGS diagnostics and what to expect as we will look into the future of molecular diagnostics for infectious disease.   https://www.triconference.com/Molecular-Diagnostics-for-Infectious-Disease

molecular diagnostics non-invasive:  See liquid biopsy, prenatal diagnostic testing

Molecular Medicine TriConference Precision Health March 2-4, 2020 San Francisco CA https://www.triconference.com/Precision-Health key opinion leaders in immunotherapy, liquid biopsy, and cell and gene therapy will discuss the latest tools, clinical advances, and commercial applications of a broad range of new and diverse products for vast improvements in medicine and healthcare.

Next Generation Diagnostics 2020 Aug 25-27, Washington DC coverage spans cell- and cell-free biopsies, commercialization, reimbursement, biomarkers and companion diagnostics for immunotherapy, point-of-care testing, infectious disease, microfluidics and precision medicine. .  https://www.nextgenerationdx.com/ 

Point of Care Technologies  August 26-27, 2020 Washington, DC   | Point-of-care technologies (POCT) provide actionable information at the location and time of care. This can mean by the hospital bedside, on the battlefield, or even at home versus conventional laboratory-based testing. This requires diagnostic testing to be done in a way where sample preparation is automated, the assay or sensor is accurate with a simple read out, having the whole platform should be easy to bring to locations outside of a laboratory or a hospital, and the cost to manufacture should be low. Some POC tests can utilize a smart phone or other mobile device to provide data analysis and is useful for sending data to the cloud. Creating an accurate, sensitive, reliable diagnostics that anyone can use is difficult, and there are many challenges to overcome.   https://www.nextgenerationdx.com/microfluidics/

screening: Carrying out of a test or tests, examination(s) or procedure(s) in order to expose undetected abnormalities, unrecognized (incipient) diseases, or defects: examples are mass X-rays and cervical smears.  IUPAC Toxicology Not the same as screening  in the sense of Assays

stratification: Early patient stratification is critical to enable effective and personalized drug discovery and development. See also Pharmacogenomics

Diagnostics Resources
Diagnostics & biomarkers Conferences http://www.healthtech.com/conferences/upcoming.aspx?s=BMK 
 Molecular Medicine Tri Conference Precision Health https://www.triconference.com/precision-health
Next Generation Diagnostics https://www.nextgenerationdx.com/

How to look for other unfamiliar  terms

IUPAC definitions are reprinted with the permission of the International Union of Pure and Applied Chemistry.